Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency (ADASCID)

Alias:

Partial Adenosine Deaminase Deficiency

Severe Combined Immunodeficiency Due to Ada Deficiency

Adenosine Deaminase Deficiency, Partial

Adenosine Deaminase Deficiency

Scid Due to Ada Deficiency

Severe Combined Immunodeficiency Autosomal Recessive T-Cell-Negative/b-Cell-Negative/nk-Cell-Negative Due to Adenosine Deaminase Deficiency

Severe Combined Immunodeficiency Autosomal Recessive T-Cell Negative/b-Cell Negative/nk-Cell Negative Due to Adenosine Deaminase Deficiency

Severe Combined Immunodeficiency Autosomal Recessive T-Cell-Negative/b Cell-Negative/nk Cell-Negative Due to Adenosine Deaminase Deficiency

Severe Combined Immunodeficiency Due to Adenosine Deaminase Deficiency

Immunodeficiency, Severe Combined, Due to Ada Deficiency

Scid Due to Ada Deficiency, Early-Onset

Ada Deficiency

Ada-Scid

Adascid

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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

严重联合免疫缺陷，常染色体隐性，T细胞阴性，B细胞阴性，NK细胞阴性，由于腺苷脱氨酶缺乏，也称为部分腺苷脱氨酶缺乏，与腺苷脱氨酶缺乏和X连锁严重联合免疫缺陷有关。与严重联合免疫缺陷，常染色体隐性，T细胞阴性，B细胞阴性，NK细胞阴性，由于腺苷脱氨酶缺乏有关的重要基因是ADA（腺苷脱氨酶）。Busulfan和免疫抑制剂已在该疾病的背景下提及。附属组织包括骨髓和骨，相关表型为发育不良和运动延迟

Related ID：

MALACARDS：SVR095

OMIM：102700

MESH：D016511